A familial mutation in the testis-determ
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Ralf J. Jäger; Vincent R. Harley; Rudolf A. Pfeiffer; Peter N. Goodfellow; Gerd
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Article
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1992
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Springer
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English
⚖ 831 KB
A familial mutation in SRY, the gene coding for the testis-determining factor TDF, was identified in an XY female with gonadal dysgenesis, her father, her two brothers and her uncle. The mutation consists of a T to C transition in the region of the SRY gene coding for a protein motif known as the hi